Psychiatric Genetics, Mental Health and Neuroscience Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, QLD, Australia.
Aust N Z J Psychiatry. 2023 Nov;57(11):1428-1442. doi: 10.1177/00048674231195571. Epub 2023 Sep 1.
The Australian Genetics of Bipolar Disorder Study is a nation-wide cohort of adults living with bipolar disorder. The study aims to detect the relationships between genetic risk, symptom severity, and the lifetime prevalence of bipolar disorder, treatment response and medication side effects, and patterns and costs of health care usage.
A total of 6682 participants (68.3% female; aged 44.8 ± 13.6 years [range = 18-90]) were recruited in three waves: a nation-wide media campaign, a mail-out based on prescriptions for lithium carbonate and through the Australian Genetics of Depression Study. Participants completed a self-report questionnaire. A total of 4706 (70%) participants provided a saliva sample and were genotyped and 5506 (82%) consented to record linkage of their Pharmaceutical and Medicare Benefits Schedule data.
Most participants were living with bipolar I disorder ( = 4068) while 1622 participants were living with bipolar II disorder and 992 with sub-threshold bipolar disorder. The mean age of bipolar disorder diagnosis was 32.7 ± 11.6 years but was younger in bipolar I ( = 2.0E-26) and females ( = 5.7E-23). Excluding depression with onset prior to bipolar disorder diagnosis, 64.5% of participants reported one or more co-occurring psychiatric disorders: most commonly generalised anxiety disorder (43.5%) and posttraumatic stress disorder (20.7%). Adverse drug reactions were common and resulted in discontinuation rates ranging from 33.4% for lithium to 63.0% for carbamazepine.
Our findings highlight the high rate of comorbidities and adverse drug reactions among adults living with bipolar disorder in the general Australian population. Future genomic analyses focus on identifying genetic variants influencing pharmacotherapy treatment response and side effects.
澳大利亚双相情感障碍遗传学研究是一项全国性的成人双相障碍队列研究。该研究旨在检测遗传风险、症状严重程度与双相障碍终生患病率、治疗反应和药物副作用、以及卫生保健使用模式和成本之间的关系。
共招募了 6682 名参与者（68.3%为女性；年龄 44.8±13.6 岁[范围 18-90]），分三个阶段进行：全国性媒体宣传、基于碳酸锂处方的邮寄宣传以及通过澳大利亚抑郁症遗传学研究进行宣传。参与者完成了一份自我报告问卷。共有 4706 名（70%）参与者提供了唾液样本并进行了基因分型，5506 名（82%）参与者同意记录其药物福利计划数据的链接。
大多数参与者患有双相 I 型障碍（ = 4068），1622 名参与者患有双相 II 型障碍，992 名参与者患有阈下双相障碍。双相障碍诊断的平均年龄为 32.7±11.6 岁，但在双相 I 型（ = 2.0E-26）和女性（ = 5.7E-23）中更年轻。排除双相障碍诊断前出现的首发抑郁症，64.5%的参与者报告有一个或多个共病精神障碍：最常见的是广泛性焦虑障碍（43.5%）和创伤后应激障碍（20.7%）。药物不良反应很常见，导致锂的停药率为 33.4%，卡马西平的停药率为 63.0%。
我们的研究结果强调了澳大利亚普通人群中成年双相障碍患者共病和药物不良反应的高发生率。未来的基因组分析重点是确定影响药物治疗反应和副作用的遗传变异。
